Canonical Allele Identifier: CA411760766

Gene: SREBF2

Linked Data

• MyVariant Identifiers: chr22:g.42276758C>T (hg19) ; chr22:g.41880754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880754C>T , CM000684.2:g.41880754C>T	GRCh38
NC_000022.10:g.42276758C>T , CM000684.1:g.42276758C>T	GRCh37
NC_000022.9:g.40606704C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1710C>T	ENSP00000518526.1:p.Cys570=
ENST00000361204.9:c.1800C>T MANE Select	ENSP00000354476.4:p.Cys600=
ENST00000361204.8:c.1800C>T	ENSP00000354476.4:p.Cys600=
ENST00000424354.5:c.1900C>T	ENSP00000395728.1:p.Pro634Ser
ENST00000612482.4:c.1810C>T	ENSP00000484441.1:p.Pro604Ser
NM_004599.3:c.1800C>T	NP_004590.2:p.Cys600=
NR_103834.1:n.2092C>T
XM_006724310.1:c.1710C>T	XP_006724373.1:p.Cys570=
XM_011530347.1:c.1425C>T	XP_011528649.1:p.Cys475=
XM_006724310.3:c.1710C>T	XP_006724373.1:p.Cys570=
XM_011530347.2:c.1425C>T	XP_011528649.1:p.Cys475=
XM_017028921.2:c.1800C>T	XP_016884410.1:p.Cys600=
XM_017028922.2:c.1800C>T	XP_016884411.1:p.Cys600=
XR_001755276.2:n.1943C>T
XR_001755277.2:n.1943C>T
XR_001755278.2:n.2066C>T
NM_004599.4:c.1800C>T MANE Select	NP_004590.2:p.Cys600=
NR_103834.2:n.2066C>T